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715437003: Neuronal intranuclear inclusion disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302624014 Neuronal intranuclear inclusion disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302625010 Neuronal intranuclear inclusion disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302627019 A very rare multisystem neurodegenerative disorder characterised by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioural or cognitive difficulties. Most cases are sporadic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303339011 A very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioral or cognitive difficulties. Most cases are sporadic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neuronal intranuclear inclusion disease (disorder) Is a Disorder of nervous system (disorder) true Inferred relationship Some
Neuronal intranuclear inclusion disease (disorder) Is a Multisystem disorder false Inferred relationship Some
Neuronal intranuclear inclusion disease (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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